Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001246331 | SCV001419676 | uncertain significance | Birt-Hogg-Dube syndrome | 2019-07-08 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has been observed in an individual affected with clinical features of Birt-Hogg-Dubé syndrome (Invitae). This variant is not present in population databases (ExAC no frequency). This variant, c.1253_1260delinsAG, is a complex sequence change that results in the deletion of 3 and insertion of 1 amino acid in the FLCN protein (p.Leu418_Leu420delinsGln). |